Researchers sequence the human genome at record speed

By sequencing the human genome in just eight hours, Stanford researchers are contributing to the development of fundamental technology for the medicine of today and tomorrow.

In 2003, the scientific community completed one of the most ambitious and significant projects in its history: the sequencing of the human genome, through the Human Genome Project (HGP). A revolution which has upset medicine and fundamental research, and which continues to have concrete repercussions: researchers from the prestigious Stanford University have just broken the speed record for the sequencing of the human genome, which opens the door to significant advances.

The Human Genome Project started in 1990 and ended in 2003; it therefore took researchers 13 years to develop the necessary techniques and sequence the entire human genome. In essence, this amounts to drawing a map of the genetic foundations of the human being. It is therefore a technology that has considerable implications at many levels, both in fundamental research and in clinical medicine.

Thanks to current techniques, it is now possible to perform this operation much more quickly. “For most clinicians, a delay of a few weeks constitutes a “fast” sequencing”, explains Euan Ashley, professor of medicine, genetics and bioinformatics at Stanford in a press release spotted by Interesting Engineering.

Complete sequencing in less than eight hours

This is a short enough time to allow many advances in medical research. Unfortunately, it’s still much too long to exploit its full potential in a clinical context. Research is therefore working to develop new, ever faster sequencing technologies. Until very recently, the record belonged to teams from the Rady’s Children Institute for Genomics Medicine, who managed to complete the operation in 14 hours.

But in this little game, the Stanford researchers have simply just broken this record; their new technique makes it possible to carry out complete sequencing in… barely eight hours. One of the twelve sequences carried out to set the record was even timed at 7 hours and 18 minutes – nearly half the previous record!

A simply exceptional speed on this scale, and which has earned them an appearance in the Guinness Book of Records. To achieve this, they had to completely rethink not the biological bases of their system, but the entire software side. They indeed used a cloud-based infrastructure. This approach allowed them to optimize the management of the immense flow of data generated by a sequencing, and thus to complete the process in record time.

The present and the future of medicine

But beyond the altogether anecdotal reward, it is above all the kind of result that could have very concrete repercussions. Indeed, the more the sequencing speed continues to increase, the more it will be possible to carry out these tests within a timeframe compatible with the reality of the field. And this is very important data, because it opens the door to a discipline called genomic medicine.

The latter plays already a crucial role in the study and clinical management of many pathologies including cancer. For example, to quote the American National Institute of Health, in certain patients with lung cancer, these techniques are already used to identify certain specific mutations; this then makes it possible to anticipate the response to different forms of chemotherapy, and therefore significantly improve the prognosis.

It is also a source of considerable hope for all patients suffering from rare, even unique, genetic diseases. The sooner their genome will be sequenced, the sooner it will be possible to trace the source of the problem, and by extension to begin the search for a treatment.

And there’s plenty to be excited about. Because in the field of sequencing, thehe most promising avenues are closely linked to advances in high-performance computing and artificial intelligence. We can therefore expect this new record to give way in its turn in a relatively short time, and so on… with all the medical benefits that this entails.

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